Rare diseases like adrenoleukodystrophy (ALD) are not well-known and often misdiagnosed. Raising awareness could help lead to better diagnosis and more research into potential treatments. Here is some information about adrenoleukodystrophy, and the attempts to make it more widely recognizable and understood.
What is ALD?
ALD is a rare neurodegenerative disease caused by mutations in the ABCD1 gene. This gene contains the information necessary for cells to produce adrenoleukodystrophy protein (ALDP), which aids in the transport and breakdown of very long chain fatty acids (VLCFAs). Mutations in the gene result in a reduction of functional ALDP, causing a buildup of VLCFAs in the nervous system and adrenal glands, leading to the disease’s symptoms.
The ABCD1 gene resides on the X chromosome. Therefore, males are much more likely to inherit the disease than females. This is because boys get only one X chromosome from their mother (and a Y chromosome from their father), while girls get an X chromosome from both their mother and their father. The second healthy copy of the ABCD1 gene can usually compensate for the faulty one.
Why is it important to raise awareness?
As with other rare diseases, physicians may not be familiar with ALD or know how to test for it. This, combined with the fact that ALD can have symptoms common to disorders such as attention-deficit/hyperactivity disorder (ADHD) or Addison’s disease, can complicate matters further. In fact, ALD could be the cause of a person’s Addison’s disease.
Raising awareness of ALD could help physicians know what to look for in order to diagnose the disease. Earlier diagnosis allows earlier treatment that can help slow or stop disease progression. The fact that existing treatments cannot reverse damage already done makes early treatment even more important.
Increased public awareness of ALD can also help raise support and funds for research into new ALD treatments.
How can I help to raise awareness?
You can help raise awareness of ALD by participating in various activities.
For example, you can volunteer and donate to patient organizations such as The Stop ALD Foundation, ALD Connect, The ALD Foundation, and many more. These organizations have resources and events that they organize to help inform people about ALD and raise awareness.
You can also raise awareness by sharing your story.
The National Organization of Rare Disorders (NORD) has templates that you can use to send your story to news media and raise awareness of ALD. You can also host your own events locally to raise awareness of ALD.
Finally, you can help advocate for ALD legislature and funding. The ALD Foundation has a template that you can send to your representatives in the congress or branches of the national government, informing them about ALD and the need for more research into potential treatments. In the U.S., you can also sign a petition for Aiden’s Law, which would encourage states to add newborn screening for ALD to required tests given newborns.
Last updated: Sept. 9, 2020
Adrenoleukodystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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